| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009a0002c0002t0001g0012a0002c0002t0001g0025others(19): Show | 22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24871328 | CTTCTGGG others(4749): Show |
C | exon_loss_variant | HIGH | HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(5): Show | 8 | 41 | 0.1951 | -4756 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24871384 | CTTTTGTC others(4750): Show |
C | exon_loss_variant | HIGH | HG01074.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0028 | 2 | 41 | 0.0488 | -4757 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24881957 | CTCCCTGA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 41 | 0.0244 | -2385 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24882195 | CAAGATGC others(11917): Show |
C | exon_loss_variant | HIGH | HG01433.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0007 | 1 | 41 | 0.0244 | -11924 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0004a0003c0004t0001g0017a0003c0004t0001g0018others(6): Show | 9 | 41 | 0.2195 | -2385 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(7147): Show |
C | exon_loss_variant | HIGH | NA19000.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0032 | 1 | 41 | 0.0244 | -7154 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24885346 | CGTTTATA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 NA20805.hp1 |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0006a0004c0003t0001g0005 | 2 | 41 | 0.0488 | -2385 | c.171 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 22/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24887215 | AATGGCAG others(4762): Show |
A | exon_loss_variant | HIGH | NA19072.hp1 NA19076.hp1 |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0001a0011c0010t0001 | a0005c0005t0001g0001a0011c0010t0001g0038 | 2 | 41 | 0.0488 | -4769 | c.178 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24888323 | GCTTCCCC others(4762): Show |
G | exon_loss_variant | HIGH | HG02071.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0030 | 1 | 41 | 0.0244 | -4769 | c.185 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DEFA1B_chr8_6991766_7004198 | 6998056 | CACTTTTT others(6135): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 2 | 398 | 0.0050 | -6142 | c.-50 others(13): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| DENND4C_chr9_19225693_19379281 | 19283744 | TGCCACCA others(28635): Show |
T | exon_loss_variant | HIGH | HG02572.hp1 | a0012 | a0012c0034 | a0012c0034t0001 | a0012c0034t0001g0232 | 1 | 292 | 0.0034 | -28642 | c.306 others(18): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DEPDC7_chr11_33010878_33038582 | 33023147 | ATGAACCC others(11336): Show |
A | exon_loss_variant | HIGH | HG01257.hp2 | a0000 | a0000c0009 | a0000c0009t0005 | a0000c0009t0005g0126 | 1 | 422 | 0.0024 | -11343 | c.74- others(13): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
| DHDH_chr19_48928699_48949969 | 48935479 | CCACTGCA others(2284): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03704.hp1 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0201 | 1 | 436 | 0.0023 | -2291 | c.202 others(16): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DHRS4_chr14_23948770_23974279 | 23967207 | GCAGCTCT others(7065): Show |
G | exon_loss_variant | HIGH | HG00408.hp2 | a0000 | a0000c0021 | a0000c0021t0005 | a0000c0021t0005g0141 | 1 | 267 | 0.0038 | -7072 | c.667 others(11): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
| DHRS4_chr14_23948770_23974279 | 23967493 | CTCTGGGA others(6779): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show |
a0000 | a0000c0004a0000c0008 | a0000c0004t0005a0000c0008t0012 | a0000c0004t0005g0026a0000c0004t0005g0139a0000c0004t0005g0142others(4): Show | 8 | 267 | 0.0300 | -6786 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | ||||||
| DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0000 | a0000c0004 | a0000c0004t0005 | a0000c0004t0005g0022a0000c0004t0005g0028a0000c0004t0005g0093others(11): Show | 16 | 267 | 0.0599 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | ||||||
| DHTKD1_chr10_12063954_12128221 | 12116556 | AACTTTTA others(5941): Show |
A | exon_loss_variant | HIGH | HG00621.hp1 | a0000 | a0000c0016 | a0000c0016t0021 | a0000c0016t0021g0265 | 1 | 374 | 0.0027 | -5948 | c.232 others(15): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/17 | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122576410 | GGTTTGGC others(3172): Show |
G | exon_loss_variant | HIGH | HG03831.hp1 | a0054 | a0054c0113 | a0054c0113t0003 | a0054c0113t0003g0265 | 1 | 282 | 0.0036 | -3179 | c.323 others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 8/56 | 340/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122580868 | CCCCAGTC others(12696): Show |
C | exon_loss_variant | HIGH | HG02738.hp1 HG03017.hp1 HG04184.hp2 others(2): Show |
a0015 | a0015c0014a0015c0044 | a0015c0014t0001a0015c0044t0002 | a0015c0014t0001g0087a0015c0014t0001g0089a0015c0014t0001g0112others(2): Show | 5 | 282 | 0.0177 | -12703 | c.102 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 12/56 | 1046/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122582487 | TTTGGCAT others(12679): Show |
T | exon_loss_variant | HIGH | NA18955.hp2 | a0085 | a0085c0083 | a0085c0083t0003 | a0085c0083t0003g0143 | 1 | 282 | 0.0036 | -12686 | c.106 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 13/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122584588 | GTGGCCAA others(12696): Show |
G | exon_loss_variant | HIGH | NA19009.hp1 | a0011 | a0011c0038 | a0011c0038t0001 | a0011c0038t0001g0060 | 1 | 282 | 0.0036 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122585799 | GCCCAGGT others(12696): Show |
G | exon_loss_variant | HIGH | HG03540.hp1 | a0090 | a0090c0046 | a0090c0046t0001 | a0090c0046t0001g0111 | 1 | 282 | 0.0036 | -12703 | c.146 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122600824 | GTGGATGA others(12170): Show |
G | exon_loss_variant | HIGH | HG02896.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0032a0036a0058 | a0032c0031a0036c0035a0058c0048 | a0032c0031t0003a0036c0035t0003a0058c0048t0002 | a0032c0031t0003g0013a0036c0035t0003g0172a0036c0035t0003g0173others(1): Show | 5 | 282 | 0.0177 | -12177 | c.334 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 29/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(4052): Show |
C | exon_loss_variant | HIGH | HG03831.hp1 HG06807.hp1 |
a0043a0054 | a0043c0092a0054c0113 | a0043c0092t0002a0054c0113t0003 | a0043c0092t0002g0046a0054c0113t0003g0265 | 2 | 282 | 0.0071 | -4059 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(8111): Show |
C | exon_loss_variant | HIGH | HG03540.hp1 NA18944.hp2 NA19056.hp1 others(2): Show |
a0014a0078a0090 | a0014c0023a0078c0068a0090c0046 | a0014c0023t0001a0014c0023t0003a0078c0068t0002others(1): Show | a0014c0023t0001g0107a0014c0023t0001g0108a0014c0023t0003g0135others(2): Show | 5 | 282 | 0.0177 | -8118 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0002a0016a0049others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(21): Show | 27 | 282 | 0.0957 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(4052): Show |
T | exon_loss_variant | HIGH | HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0001a0012a0046others(2): Show | a0001c0001a0001c0004a0001c0074others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(6): Show | a0001c0001t0002g0165a0001c0001t0002g0179a0001c0001t0002g0183others(18): Show | 21 | 282 | 0.0745 | -4059 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0006a0008a0011others(2): Show | a0006c0012a0008c0009a0008c0028others(3): Show | a0006c0012t0002a0008c0009t0002a0008c0028t0003others(4): Show | a0006c0012t0002g0188a0006c0012t0002g0189a0006c0012t0002g0190others(11): Show | 16 | 282 | 0.0567 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(12170): Show |
T | exon_loss_variant | HIGH | NA18956.hp2 NA18981.hp1 NA18983.hp2 |
a0029a0089 | a0029c0029a0089c0047 | a0029c0029t0002a0089c0047t0002 | a0029c0029t0002g0150a0029c0029t0002g0259a0089c0047t0002g0045 | 3 | 282 | 0.0106 | -12177 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0012a0021others(11): Show | a0001c0001a0001c0004a0001c0027others(16): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(42): Show | 45 | 282 | 0.1596 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show |
a0006a0009a0011others(4): Show | a0006c0010a0009c0011a0009c0102others(6): Show | a0006c0010t0001a0006c0010t0003a0006c0010t0004others(8): Show | a0006c0010t0001g0011a0006c0010t0001g0140a0006c0010t0003g0139others(15): Show | 21 | 282 | 0.0745 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(12170): Show |
T | exon_loss_variant | HIGH | HG01069.hp1 NA19030.hp1 |
a0053a0075 | a0053c0091a0075c0072 | a0053c0091t0002a0075c0072t0002 | a0053c0091t0002g0036a0075c0072t0002g0177 | 2 | 282 | 0.0071 | -12177 | c.369 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122604797 | TGGGGGGC others(4053): Show |
T | exon_loss_variant | HIGH | NA18966.hp2 NA19066.hp2 |
a0068a0077 | a0068c0077a0077c0067 | a0068c0077t0004a0077c0067t0004 | a0068c0077t0004g0218a0077c0067t0004g0132 | 2 | 282 | 0.0071 | -4060 | c.369 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122609025 | GGATTCCC others(8111): Show |
G | exon_loss_variant | HIGH | HG01346.hp1 | a0009 | a0009c0011 | a0009c0011t0003 | a0009c0011t0003g0083 | 1 | 282 | 0.0036 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122609057 | CACCTTTT others(8111): Show |
C | exon_loss_variant | HIGH | NA19060.hp2 NA19081.hp2 |
a0014 | a0014c0030 | a0014c0030t0001 | a0014c0030t0001g0158a0014c0030t0001g0159 | 2 | 282 | 0.0071 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122613317 | CGTGGGAG others(4053): Show |
C | exon_loss_variant | HIGH | NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show |
a0013 | a0013c0016a0013c0069 | a0013c0016t0002a0013c0069t0001 | a0013c0016t0002g0205a0013c0016t0002g0206a0013c0016t0002g0207others(2): Show | 5 | 282 | 0.0177 | -4060 | c.450 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 38/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DNAH12_chr3_57288700_57549344 | 57485474 | TACACCAC others(6439): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02257.hp1 | a0038 | a0038c0040 | a0038c0040t0001 | a0038c0040t0001g0014 | 1 | 266 | 0.0038 | -6446 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/74 | chr3 | TogoVar | ||||||
| DNAH14_chr1_224924675_225404286 | 225392969 | GCCCTGCC others(7352): Show |
G | exon_loss_variant | HIGH | HG02683.hp1 | a0000 | a0000c0102 | a0000c0102t0003 | a0000c0102t0003g0177 | 1 | 240 | 0.0042 | -7359 | c.134 others(15): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 85/86 | chr1 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 213948 | GATCTCCT others(33804): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02630.hp2 | a0061 | a0061c0166 | a0061c0166t0018 | a0061c0166t0018g0001 | 1 | 256 | 0.0039 | -33811 | c.-10 others(14): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 1/48 | chr9 | TogoVar | ||||||
| ECT2L_chr6_138791087_138909070 | 138875859 | GCCTGTAA others(8510): Show |
G | exon_loss_variant | HIGH | HG03471.hp1 | a0022 | a0022c0026 | a0022c0026t0012 | a0022c0026t0012g0218 | 1 | 326 | 0.0031 | -8517 | c.157 others(18): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| EDDM13_chr19_56267748_56315454 | 56290059 | GTGGTTTC others(4278): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA19004.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0097 | 1 | 396 | 0.0025 | -4285 | c.227 others(16): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EFCC1_chr3_128996304_129045742 | 129026309 | CTGTCCCT others(8739): Show |
C | exon_loss_variant | HIGH | HG02717.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0177 | 1 | 354 | 0.0028 | -8746 | c.981 others(17): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 681605 | GTTTAAAT others(9044): Show |
G | exon_loss_variant | HIGH | NA18967.hp2 NA19083.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0190a0005c0009t0001g0286 | 2 | 418 | 0.0048 | -9051 | c.536 others(15): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 11/16 | chr18 | TogoVar | ||||||
| EPSTI1_chr13_42881388_42997241 | 42963303 | TTCCTTCT others(10920): Show |
T | exon_loss_variant | HIGH | HG03831.hp2 | a0005 | a0005c0009 | a0005c0009t0041 | a0005c0009t0041g0105 | 1 | 352 | 0.0028 | -10927 | c.189 others(12): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 4/11 | 516/3106 | chr13 | TogoVar | |||||
| ERAP2_chr5_96871500_96924703 | 96912223 | TGCCTTCA others(9786): Show |
T | exon_loss_variant | HIGH | NA18983.hp2 NA19068.hp2 |
a0000 | a0000c0010 | a0000c0010t0014 | a0000c0010t0014g0026 | 2 | 398 | 0.0050 | -9793 | c.235 others(14): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 16/19 | chr5 | TogoVar | ||||||
| EXO5_chr1_40503767_40521038 | 40510988 | CACTTTGG others(6405): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02074.hp1 | a0000 | a0000c0000 | a0000c0000t0008 | a0000c0000t0008g0031 | 1 | 406 | 0.0025 | -6412 | c.-31 others(14): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
| EXOSC7_chr3_44971244_45016471 | 45003609 | TAGCTGGA others(6001): Show |
T | exon_loss_variant | HIGH | NA19057.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0258 | 1 | 340 | 0.0029 | -6008 | c.492 others(17): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |