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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX6_chr11_118742763_118796164 | 118768987 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp2 others(105): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(99): Show |
108 | 142 | 0.7606 | 7 | c.370 others(22): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 4/13 | chr11 | TogoVar | |||||||
DDX6_chr11_118742763_118796164 | 118788314 | A | AAACAAAC | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 |
3 | 342 | 0.0088 | 7 | c.-26 others(26): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 670931 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0050 others(44): Show |
47 | 89 | 0.5281 | 7 | c.150 others(26): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 694220 | G | GGGGGGCA | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0327 a0001c0002t0001g0326 a0001c0002t0001g0328 others(8): Show |
11 | 344 | 0.0320 | 7 | c.289 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
DEFA1B_chr8_6991766_7004198 | 6993387 | C | CTTTTTCT | downstream_gene_variant | MODIFIER | HG02300.hp1 HG03471.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 264 | 0.0114 | 7 | c.*34 others(18): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 3378 | chr8 | TogoVar | |||||||
DEFA1B_chr8_6991766_7004198 | 6998909 | G | GGACATGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(136): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 139 | 398 | 0.3492 | 7 | c.-13 others(22): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
DEFA1B_chr8_6991766_7004198 | 7001165 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 99 | 398 | 0.2487 | 7 | c.-20 others(18): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1968 | chr8 | TogoVar | |||||||
DEFA1_chr8_6972649_6985092 | 6982055 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(20): Show |
180 | 407 | 0.4423 | 7 | c.-20 others(18): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 1964 | chr8 | TogoVar | |||||||
DEFA1_chr8_6972649_6985092 | 6982060 | G | GGTCTTGA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0042 a0002c0002t0002g0006 a0002c0002t0002g0013 others(1): Show |
13 | 408 | 0.0319 | 7 | c.-20 others(18): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 1969 | chr8 | TogoVar | |||||||
DEFA3_chr8_7010869_7023297 | 7012490 | C | CTTTTTCT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(12): Show |
101 | 388 | 0.2603 | 7 | c.*34 others(18): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3378 | chr8 | TogoVar | |||||||
DEFA3_chr8_7010869_7023297 | 7018008 | G | GGACATGT | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01516.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0052 others(4): Show |
19 | 430 | 0.0442 | 7 | c.-13 others(22): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
DEFA3_chr8_7010869_7023297 | 7020264 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | NA18959.hp2 NA18965.hp1 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 430 | 0.0116 | 7 | c.-20 others(18): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 1968 | chr8 | TogoVar | |||||||
DEFB104A_chr8_7831436_7846242 | 7838701 | C | CAAACAAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0036 a0002c0002t0001g0007 |
6 | 102 | 0.0588 | 7 | c.58+ others(22): Show |
DEFB104A | ENSG00000176782.3 | transcript | ENST00000314265.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEFB106A_chr8_7820139_7834053 | 7829529 | T | TCCCTCCC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(13): Show |
49 | 81 | 0.6049 | 7 | c.*57 others(16): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 477 | chr8 | TogoVar | |||||||
DEFB107A_chr8_7806720_7820716 | 7816064 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(4): Show |
7 | 18 | 0.3889 | 7 | c.-43 others(16): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 349 | chr8 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31460620 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173 a0001c0001t0002g0038 a0001c0001t0002g0091 others(5): Show |
8 | 184 | 0.0435 | 7 | c.*48 others(18): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4850 | chr20 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31463125 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0106 others(1): Show |
6 | 159 | 0.0377 | 7 | c.*23 others(18): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2345 | chr20 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31472439 | A | AGGGAGAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 others(55): Show |
79 | 357 | 0.2213 | 7 | c.58+ others(20): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
DEFB130A_chr8_12305962_12323316 | 12309469 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0077 |
8 | 333 | 0.0240 | 7 | c.*14 others(18): Show |
DEFB130A | ENSG00000232948.1 | transcript | ENST00000400079.1 | protein_coding | 1492 | chr8 | TogoVar | |||||||
DEFB132_chr20_252724_266096 | 255356 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01243.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 others(4): Show |
32 | 194 | 0.1649 | 7 | c.-24 others(18): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 2367 | chr20 | TogoVar | |||||||
DENND10_chr10_119099113_119142984 | 119135791 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG02976.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0103 a0001c0001t0001g0196 a0001c0001t0001g0209 others(10): Show |
13 | 16 | 0.8125 | 7 | c.898 others(22): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123516884 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01168.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0085 a0001c0001t0001g0150 others(14): Show |
17 | 18 | 0.9444 | 7 | c.993 others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123627757 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG02132.hp2 HG02818.hp2 others(5): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0010 | a0001c0002t0009a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0002t0009g0037 a0001c0003t0001g0146 a0001c0003t0001g0148 others(5): Show |
8 | 160 | 0.0500 | 7 | c.719 others(24): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123728479 | C | CAAAAAAA | intron_variant | MODIFIER | HG02056.hp2 HG02818.hp2 HG02886.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0010others(2): Show | a0001c0001t0003g0076 a0001c0001t0004g0156 a0001c0003t0010g0151 others(2): Show |
5 | 32 | 0.1563 | 7 | c.302 others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 5/23 | chr9 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197544983 | G | GGGAAGAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0059 others(252): Show |
256 | 278 | 0.9209 | 7 | c.135 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197571219 | T | TTACAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(50): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(6): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(50): Show |
53 | 278 | 0.1906 | 7 | c.114 others(28): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 15/22 | chr1 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197667821 | A | AAAAAATG | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02723.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0029a0001c0001t0035a0001c0003t0026others(4): Show | a0001c0001t0029g0278 a0001c0001t0029g0279 a0001c0001t0035g0014 others(10): Show |
13 | 278 | 0.0468 | 7 | c.296 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 5/22 | chr1 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197676082 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(173): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0013 a0001c0001t0001g0161 a0001c0001t0001g0163 others(173): Show |
176 | 226 | 0.7788 | 7 | c.127 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197754659 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG02027.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(3): Show | a0001c0001t0003g0129 a0001c0001t0005g0147 a0001c0002t0002g0071 others(8): Show |
11 | 47 | 0.2340 | 7 | c.82+ others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
DENND2A_chr7_140513420_140645813 | 140562676 | A | AACAAAAC | intron_variant | MODIFIER | HG00642.hp1 HG02071.hp2 HG02165.hp2 others(15): Show |
a0002a0003a0007 | a0002c0009a0002c0016a0003c0005others(3): Show | a0002c0009t0002a0002c0016t0003a0003c0005t0002others(5): Show | a0002c0009t0002g0017 a0002c0016t0003g0025 a0003c0005t0002g0005 others(15): Show |
18 | 250 | 0.0720 | 7 | c.178 others(26): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 9/19 | chr7 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8698137 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG02257.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0302 others(11): Show |
14 | 99 | 0.1414 | 7 | c.294 others(24): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 16/19 | chr11 | TogoVar | |||||||
DENND4B_chr1_153924501_153951718 | 153943678 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp1 others(20): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0064 others(5): Show |
23 | 105 | 0.2190 | 7 | c.317 others(22): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
DENND4C_chr9_19225693_19379281 | 19282715 | C | CTCTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0208 others(10): Show |
13 | 122 | 0.1066 | 7 | c.306 others(24): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9171697 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG02698.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 others(3): Show |
6 | 190 | 0.0316 | 7 | c.190 others(24): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31395942 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 NA18964.hp1 NA18993.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0035 | a0003c0003t0002g0170 a0003c0003t0002g0172 a0003c0003t0002g0175 others(3): Show |
6 | 81 | 0.0741 | 7 | c.325 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31397549 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0272 a0001c0001t0004g0013 a0001c0001t0004g0047 others(8): Show |
11 | 24 | 0.4583 | 7 | c.325 others(24): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31404759 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(69): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 others(69): Show |
72 | 78 | 0.9231 | 7 | c.280 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 14/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31449731 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01099.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0003a0001c0001t0042a0001c0012t0051others(4): Show | a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 others(28): Show |
31 | 167 | 0.1856 | 7 | c.163 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31449735 | T | TTTTGTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(109): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(24): Show | a0001c0001t0005g0151 a0001c0001t0009g0080 a0001c0001t0009g0083 others(109): Show |
112 | 304 | 0.3684 | 7 | c.163 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31497823 | A | ATGGGGAG | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00673.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0035 | a0003c0003t0002g0166 a0003c0003t0002g0170 a0003c0003t0002g0171 others(13): Show |
16 | 40 | 0.4000 | 7 | c.128 others(24): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31545950 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01891.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0009a0001c0005t0004a0002c0002t0001others(5): Show | a0001c0001t0009g0137 a0001c0005t0004g0035 a0001c0005t0004g0037 others(19): Show |
22 | 53 | 0.4151 | 7 | c.127 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60699443 | G | GAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0238 a0001c0001t0001g0239 others(31): Show |
36 | 112 | 0.3214 | 7 | c.48+ others(20): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
DEPDC1_chr1_68469152_68502082 | 68480251 | A | AACACCAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0023 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0039 others(4): Show |
21 | 273 | 0.0769 | 7 | c.193 others(24): Show |
DEPDC1 | ENSG00000024526.17 | transcript | ENST00000456315.7 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31770547 | A | ATTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01516.hp2 HG01517.hp1 others(4): Show |
a0001a0005 | a0001c0009a0001c0014a0005c0006others(1): Show | a0001c0009t0010a0001c0014t0010a0005c0006t0009others(1): Show | a0001c0009t0010g0174 a0001c0009t0010g0176 a0001c0014t0010g0175 others(4): Show |
7 | 127 | 0.0551 | 7 | c.413 others(24): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31879029 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01081.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0004a0001c0008t0003a0002c0003t0004others(3): Show | a0001c0001t0004g0108 a0001c0008t0003g0184 a0002c0003t0004g0012 others(10): Show |
13 | 149 | 0.0872 | 7 | c.380 others(24): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 37/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31887419 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0008a0001c0002t0003others(1): Show | a0001c0001t0005g0122 a0001c0001t0008g0163 a0001c0002t0003g0177 others(3): Show |
6 | 86 | 0.0698 | 7 | c.403 others(26): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 38/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 119900356 | A | AATTGTCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0004others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(12): Show | a0001c0003t0001g0098 a0001c0003t0001g0117 a0001c0003t0001g0120 others(69): Show |
72 | 196 | 0.3673 | 7 | c.122 others(26): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120030497 | G | GTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01361.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0002t0004g0073 a0001c0003t0001g0098 a0001c0003t0003g0020 others(22): Show |
25 | 53 | 0.4717 | 7 | c.110 others(28): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88515538 | T | TAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0019 others(28): Show |
38 | 194 | 0.1959 | 7 | c.146 others(26): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88533852 | T | TAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG01256.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0044 others(15): Show |
20 | 112 | 0.1786 | 7 | c.-10 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar |