| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ODF4_chr17_8334840_8351046 | 8343293 | GGCTAATT others(1350): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0001a0004c0005others(1): Show | a0001c0002t0001a0002c0001t0001a0004c0005t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0031a0002c0001t0001g0004others(25): Show | 164 | 432 | 0.3796 | -1357 | c.455 others(16): Show |
ODF4 | ENSG00000184650.11 | transcript | ENST00000328248.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| UBXN7_chr3_196342662_196437427 | 196404013 | GGAGGCAG others(1350): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 274 | 0.0037 | -1357 | c.221 others(16): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| FNDC3B_chr3_172034578_172406669 | 172318785 | GGGGTTCT others(1349): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0161 | 1 | 196 | 0.0051 | -1356 | c.125 others(19): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806532 | ACCCTCCC others(1349): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 314 | 0.0032 | -1356 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806532 | ACCCTCCC others(1349): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0153 | 1 | 319 | 0.0031 | -1356 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2660 | chr2 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137471427 | CGTCTCTA others(1349): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0066a0001c0002t0001g0090 | 2 | 188 | 0.0106 | -1356 | c.288 others(19): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | ||||||
| HLA-DQB1_chr6_32654467_32671657 | 32670302 | GAAAACAG others(1348): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00621.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0044a0002c0002t0002g0046 | 18 | 402 | 0.0448 | -1355 | c.-50 others(11): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 3646 | chr6 | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28846497 | AGTGGGTG others(1348): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0003g0034a0001c0001t0004g0022a0001c0001t0004g0039others(4): Show | 7 | 62 | 0.1129 | -1355 | c.-39 others(22): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99811328 | GAGCCACT others(1347): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01074.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0002 | a0001c0003t0003g0277a0001c0003t0003g0279a0002c0001t0002g0278 | 3 | 288 | 0.0104 | -1354 | c.67+ others(17): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| QRICH2_chr17_76269049_76313276 | 76284635 | GGTGAAAC others(1347): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 364 | 0.0028 | -1354 | c.401 others(19): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
| SMG6_chr17_2054843_2308785 | 2110063 | CAGAGTGA others(1347): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0165 | 1 | 278 | 0.0036 | -1354 | c.335 others(21): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | ||||||
| RYR3_chr15_33305967_33871102 | 33778345 | AAACACCA others(1346): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0040 | a0005c0040t0013 | a0005c0040t0013g0145 | 1 | 154 | 0.0065 | -1353 | c.913 others(18): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 64/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1071846 | CGGGCATC others(1346): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0086 | 1 | 118 | 0.0085 | -1353 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SMARCA1_chrX_129441506_129528490 | 129527137 | CAAAAAAT others(1346): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | 279 | 0.0072 | -1353 | c.-51 others(11): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 3648 | chrX | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111538484 | GGGACTAC others(1345): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 298 | 0.0034 | -1352 | c.571 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 77430542 | AGAAACCC others(1345): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0104a0001c0001t0001g0113others(10): Show | 13 | 128 | 0.1016 | -1352 | c.155 others(21): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560754 | GCCCTGAG others(1345): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 180 | 0.0056 | -1352 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SYNE2_chr14_63848004_64231433 | 63942423 | ATTCTTCT others(1345): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0009 | a0009c0010 | a0009c0010t0004 | a0009c0010t0004g0079 | 1 | 150 | 0.0067 | -1352 | c.408 others(16): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ZFAND3_chr6_37814727_38159624 | 37883448 | CAGACTAC others(1345): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01891.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(41): Show | 44 | 318 | 0.1384 | -1352 | c.72- others(17): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMAD1_chr4_145476853_145564176 | 145526563 | AGGACCCA others(1344): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020a0001c0001t0005g0021a0001c0001t0005g0043others(2): Show | 5 | 308 | 0.0162 | -1351 | c.400 others(19): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392933 | GGGCAGGT others(1344): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0041 | a0001c0001t0017g0171a0001c0001t0041g0175 | 2 | 346 | 0.0058 | -1351 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765355 | CTTGGGGA others(1343): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG02451.hp2 others(2): Show |
a0002a0004a0018 | a0002c0002a0004c0005a0018c0025 | a0002c0002t0002a0004c0005t0002a0018c0025t0016 | a0002c0002t0002g0078a0002c0002t0002g0141a0002c0002t0002g0155others(2): Show | 5 | 412 | 0.0121 | -1350 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765806 | GTGGGGAG others(1343): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0148 | 1 | 412 | 0.0024 | -1350 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241766155 | GTTGGGGA others(1343): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082a0001c0001t0006g0083a0001c0001t0006g0172 | 3 | 412 | 0.0073 | -1350 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 991389 | AGACCCCC others(1343): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -1350 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOCK2_chr5_169632275_170088382 | 169825974 | GTTTTTTG others(1343): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0122 | 1 | 184 | 0.0054 | -1350 | c.270 others(21): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 26/51 | chr5 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89799877 | TCAGCTAC others(1343): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 334 | 0.0030 | -1350 | c.793 others(16): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 8/42 | chr16 | TogoVar | ||||||
| INSIG2_chr2_118083471_118115997 | 118093038 | AGGAGAGT others(1343): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0242 | 8 | 440 | 0.0182 | -1350 | c.-13 others(19): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(1343): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 67 | 0.0149 | -1350 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560674 | GCATTCTT others(1343): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 180 | 0.0056 | -1350 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| KIF19_chr17_74321226_74360820 | 74338330 | CTGCAAGC others(1342): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0018 | a0018c0055 | a0018c0055t0002 | a0018c0055t0002g0224 | 1 | 412 | 0.0024 | -1349 | c.121 others(17): Show |
KIF19 | ENSG00000196169.15 | transcript | ENST00000389916.5 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DHRS4L2_chr14_23983929_24011403 | 24010055 | GGTGGAGT others(1341): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 32 | 0.0313 | -1348 | c.*41 others(11): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3653 | chr14 | TogoVar | ||||||
| RPL26_chr17_8372516_8388193 | 8374178 | ATAGAAAA others(1341): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -1348 | c.*20 others(11): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 3337 | chr17 | TogoVar | ||||||
| GGTLC2_chr22_22639614_22652898 | 22640753 | TTTTTTTT others(1340): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01346.hp1 others(14): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0003c0031others(1): Show | a0001c0001t0016a0003c0005t0004a0003c0031t0004others(1): Show | a0001c0001t0016g0318a0003c0005t0004g0005a0003c0005t0004g0006others(8): Show | 17 | 412 | 0.0413 | -1347 | c.-39 others(11): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 3860 | chr22 | TogoVar | ||||||
| LRBA_chr4_150259435_151020284 | 150552261 | AGTCAAGT others(1339): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0171 | 1 | 180 | 0.0056 | -1346 | c.633 others(21): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 40/56 | chr4 | TogoVar | ||||||
| NLRP7_chr19_54918515_54952530 | 54942218 | TGCACTCC others(1338): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0017 | 1 | 419 | 0.0024 | -1345 | c.-39 others(16): Show |
NLRP7 | ENSG00000167634.12 | transcript | ENST00000592784.6 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| AGPAT4_chr6_161124967_161279061 | 161145006 | ATTTTATA others(1337): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0162 | 1 | 264 | 0.0038 | -1344 | c.843 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91735742 | AAGAGAAG others(1337): Show |
A | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 271 | 0.0037 | -1344 | c.-51 others(11): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 3657 | chr14 | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1296798 | CCTGGCGG others(1337): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02622.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0002c0006others(4): Show | a0001c0002t0009a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0002t0009g0011a0002c0003t0001g0007a0002c0003t0001g0008others(7): Show | 10 | 159 | 0.0629 | -1344 | c.810 others(17): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DISP1_chr1_222810039_223010995 | 222836184 | TATTTTAC others(1337): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0174 | 1 | 348 | 0.0029 | -1344 | c.-15 others(21): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1990832 | CGAGCACC others(1337): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0004 | a0001c0003t0001g0074a0001c0007t0004g0078 | 2 | 264 | 0.0076 | -1344 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MTMR9_chr8_11279816_11333146 | 11290425 | GTGGTGCC others(1337): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212a0001c0001t0002g0263 | 2 | 348 | 0.0058 | -1344 | c.183 others(17): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109142356 | ACCAGTCT others(1337): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0038 | 1 | 152 | 0.0066 | -1344 | c.516 others(18): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 32/34 | chr13 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42151240 | TCCTGGCT others(1337): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 306 | 0.0033 | -1344 | c.-89 others(17): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| SORL1_chr11_121447314_121638763 | 121480607 | CAGCTCCT others(1337): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0211 | 1 | 272 | 0.0037 | -1344 | c.528 others(17): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FKBP9_chr7_32952440_33011928 | 33007208 | CCAGGGCC others(1336): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0059 | 1 | 430 | 0.0023 | -1343 | c.*18 others(11): Show |
FKBP9 | ENSG00000122642.11 | transcript | ENST00000242209.9 | protein_coding | 281 | chr7 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393051 | CAGGTGGT others(1336): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0085 | a0001c0001t0001g0296a0001c0001t0085g0032 | 2 | 346 | 0.0058 | -1343 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393355 | CAGGTGGT others(1336): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(28): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0237a0001c0001t0001g0297a0001c0001t0002g0115others(28): Show | 31 | 346 | 0.0896 | -1343 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54423268 | GCAAAAGA others(1335): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp2 others(4): Show |
a0003a0005a0016others(2): Show | a0003c0003a0005c0005a0016c0012others(2): Show | a0003c0003t0001a0003c0003t0004a0005c0005t0004others(3): Show | a0003c0003t0001g0017a0003c0003t0001g0084a0003c0003t0004g0088others(4): Show | 7 | 102 | 0.0686 | -1342 | c.158 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54423268 | GCAAAAGA others(1335): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0006a0003c0003a0003c0005others(3): Show | a0002c0006t0005a0003c0003t0001a0003c0003t0002others(4): Show | a0002c0006t0005g0074a0003c0003t0001g0017a0003c0003t0002g0080others(4): Show | 7 | 94 | 0.0745 | -1342 | c.158 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar |