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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAZ4_chrY_24828919_24912040 | 24861656 | GACTATAT others(4773): Show |
G | exon_loss_variant | HIGH | HG02027.hp1 HG03942.hp1 |
a0005a0007 | a0005c0004a0007c0006 | a0005c0004t0001a0007c0006t0001 | a0005c0004t0001g0009 a0007c0006t0001g0037 |
2 | 39 | 0.0513 | -4780 | c.128 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0005a0005c0004others(4): Show | a0001c0001t0001a0004c0005t0001a0005c0004t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(19): Show |
22 | 40 | 0.5500 | -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 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 others(5): Show |
8 | 40 | 0.2000 | -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 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 a0002c0002t0001g0028 |
2 | 40 | 0.0500 | -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 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0003 | 1 | 40 | 0.0250 | -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 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 40 | 0.0250 | -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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show |
9 | 32 | 0.2813 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 24 | 0.0417 | -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 |
a0004a0008 | a0004c0005a0008c0007 | a0004c0005t0001a0008c0007t0001 | a0004c0005t0001g0006 a0008c0007t0001g0005 |
2 | 25 | 0.0800 | -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 |
a0009a0010 | a0009c0009a0010c0008 | a0009c0009t0001a0010c0008t0001 | a0009c0009t0001g0001 a0010c0008t0001g0038 |
2 | 40 | 0.0500 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 20 | 0.0500 | -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 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 224 | 0.0089 | -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 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0229 | 1 | 290 | 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 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0051 | 1 | 420 | 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 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0175 | 1 | 434 | 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 | a0006 | a0006c0019 | a0006c0019t0005 | a0006c0019t0005g0129 | 1 | 265 | 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 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(4): Show |
8 | 265 | 0.0302 | -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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(11): Show |
16 | 155 | 0.1032 | -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 | a0008 | a0008c0014 | a0008c0014t0009 | a0008c0014t0009g0262 | 1 | 372 | 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 | a0041 | a0041c0069 | a0041c0069t0003 | a0041c0069t0003g0243 | 1 | 280 | 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 |
a0011 | a0011c0012a0011c0032 | a0011c0012t0001a0011c0032t0002 | a0011c0012t0001g0088 a0011c0012t0001g0090 a0011c0012t0001g0107 others(2): Show |
5 | 280 | 0.0179 | -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(36): Show |
a0002a0003a0007others(4): Show | a0002c0007a0002c0008a0003c0003others(7): Show | a0002c0007t0003a0002c0007t0004a0002c0008t0002others(9): Show | a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 others(30): Show |
39 | 217 | 0.1797 | -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 | a0006 | a0006c0004 | a0006c0004t0003 | a0006c0004t0003g0136 | 1 | 280 | 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 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0063 | 1 | 278 | 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 | a0039 | a0039c0033 | a0039c0033t0001 | a0039c0033t0001g0106 | 1 | 280 | 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 |
a0018a0022 | a0018c0024a0018c0039a0022c0025 | a0018c0024t0003a0018c0039t0002a0022c0025t0003 | a0018c0024t0003g0022 a0018c0039t0002g0053 a0022c0025t0003g0162 others(1): Show |
5 | 277 | 0.0181 | -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 |
a0041a0042 | a0041c0069a0042c0056 | a0041c0069t0003a0042c0056t0002 | a0041c0069t0003g0243 a0042c0056t0002g0049 |
2 | 172 | 0.0116 | -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 |
a0001a0039a0049 | a0001c0002a0039c0033a0049c0049 | a0001c0002t0001a0001c0002t0003a0039c0033t0001others(1): Show | a0001c0002t0001g0016 a0001c0002t0003g0129 a0039c0033t0001g0106 others(1): Show |
5 | 175 | 0.0286 | -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 |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -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 |
a0004a0013a0035others(2): Show | a0004c0005a0004c0028a0013c0015others(3): Show | a0004c0005t0001a0004c0028t0002a0013c0015t0001others(3): Show | a0004c0005t0001g0002 a0004c0005t0001g0003 a0004c0005t0001g0026 others(16): Show |
27 | 280 | 0.0964 | -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 |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0005c0006others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0157 a0001c0001t0002g0159 others(17): Show |
21 | 226 | 0.0929 | -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 |
a0001a0002a0005others(1): Show | a0001c0001a0002c0007a0002c0008others(2): Show | a0001c0001t0002a0002c0007t0003a0002c0007t0004others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0240 others(9): Show |
16 | 221 | 0.0724 | -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 |
a0002a0044 | a0002c0008a0044c0034 | a0002c0008t0002a0044c0034t0002 | a0002c0008t0002g0143 a0002c0008t0002g0237 a0044c0034t0002g0048 |
3 | 208 | 0.0144 | -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 |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(40): Show |
45 | 252 | 0.1786 | -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(17): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0036a0002c0008others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 others(13): Show |
20 | 227 | 0.0881 | -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 |
a0001a0047 | a0001c0001a0047c0057 | a0001c0001t0002a0047c0057t0002 | a0001c0001t0002g0188 a0047c0057t0002g0039 |
2 | 209 | 0.0096 | -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 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0127 a0001c0002t0004g0200 |
2 | 279 | 0.0072 | -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 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0085 | 1 | 280 | 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 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0150 a0001c0023t0001g0151 |
2 | 280 | 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 |
a0012 | a0012c0014a0012c0047 | a0012c0014t0002a0012c0047t0001 | a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 others(2): Show |
5 | 280 | 0.0179 | -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 | a0042 | a0042c0040 | a0042c0040t0001 | a0042c0040t0001g0014 | 1 | 264 | 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 | a0066 | a0066c0101 | a0066c0101t0002 | a0066c0101t0002g0177 | 1 | 238 | 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 | a0038 | a0038c0166 | a0038c0166t0018 | a0038c0166t0018g0001 | 1 | 253 | 0.0040 | -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 | a0015 | a0015c0020 | a0015c0020t0012 | a0015c0020t0012g0218 | 1 | 324 | 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 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0105 | 1 | 394 | 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 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0163 | 1 | 352 | 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 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0191 a0006c0009t0001g0275 |
2 | 416 | 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 | a0004 | a0004c0007 | a0004c0007t0041 | a0004c0007t0041g0105 | 1 | 350 | 0.0029 | -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 |
a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0039 | 2 | 396 | 0.0051 | -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 | a0002 | a0002c0000 | a0002c0000t0006 | a0002c0000t0006g0012 | 1 | 404 | 0.0025 | -6412 | c.-31 others(14): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | chr1 | TogoVar |