| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B3GAT2_chr6_70851679_70962060 | 70889294 | ATTAAAGA others(2671): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0168 | 1 | 314 | 0.0032 | -2678 | c.736 others(17): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
| CAMTA1_chr1_6780454_7774706 | 7585694 | GGGCAGGA others(2671): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | -2678 | c.511 others(19): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258395 | AGAGCATT others(2670): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0100 | 1 | 264 | 0.0038 | -2677 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1314 | chr5 | TogoVar | |||||||
| ADGB_chr6_146593972_146820462 | 146770679 | ACGAGAAA others(2669): Show |
A | intron_variant | MODIFIER | NA18998.hp2 NA19085.hp1 NA19087.hp2 |
a0003a0005 | a0003c0019a0005c0026 | a0003c0019t0001a0005c0026t0001 | a0003c0019t0001g0077 a0003c0019t0001g0268 a0005c0026t0001g0128 |
3 | 274 | 0.0109 | -2676 | c.386 others(19): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744874 | GGGGTCGC others(2668): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0272 | 1 | 359 | 0.0028 | -2675 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744927 | CCCGGGGG others(2668): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 361 | 0.0028 | -2675 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ZNF398_chr7_149142453_149188042 | 149150472 | GCCTGTGG others(2667): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 312 | 0.0032 | -2674 | c.24+ others(14): Show |
ZNF398 | ENSG00000197024.9 | transcript | ENST00000475153.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| KCNH8_chr3_19143510_19540642 | 19275294 | AGTGTGTT others(2666): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0079 | 1 | 132 | 0.0076 | -2673 | c.311 others(17): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| OR2V1_chr5_181118122_181136169 | 181133460 | AGCCTCCC others(2665): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0167 others(7): Show |
13 | 436 | 0.0298 | -2672 | c.-52 others(11): Show |
OR2V1 | ENSG00000185372.4 | transcript | ENST00000641551.1 | protein_coding | 2292 | chr5 | TogoVar | |||||||
| RBFOX1_chr16_6014024_7718340 | 6224503 | TAAGATGC others(2665): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0014 | 1 | 68 | 0.0147 | -2672 | c.-12 others(21): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| GHRH_chr20_37246086_37266814 | 37263210 | TGCCACTG others(2663): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 406 | 0.0025 | -2670 | c.-41 others(11): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 1397 | chr20 | TogoVar | |||||||
| SLC9B1_chr4_102895928_103024705 | 102924867 | ACCAATTA others(2663): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 316 | 0.0032 | -2670 | c.829 others(17): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
| PCNT_chr21_46319156_46450769 | 46381982 | CGCATTCA others(2661): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(63): Show |
a0003a0010a0011others(10): Show | a0003c0003a0003c0080a0003c0084others(12): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(14): Show | a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(63): Show |
66 | 330 | 0.2000 | -2668 | c.331 others(18): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCDHB16_chr5_141177387_141191226 | 141188559 | AAGCTGAG others(2660): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 450 | 0.0022 | -2667 | c.*36 others(11): Show |
PCDHB16 | ENSG00000272674.4 | transcript | ENST00000609684.3 | protein_coding | 2334 | chr5 | TogoVar | |||||||
| DNAH9_chr17_11593470_11974748 | 11972082 | TGCTGACT others(2659): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0022 | a0022c0111 | a0022c0111t0001 | a0022c0111t0001g0089 | 1 | 168 | 0.0060 | -2666 | c.*25 others(11): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 2335 | chr17 | TogoVar | |||||||
| SSH2_chr17_29620938_29935228 | 29852003 | TGGGCACG others(2659): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG03225.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0015a0001c0001t0020a0014c0016t0017 | a0001c0001t0015g0007 a0001c0001t0015g0008 a0001c0001t0020g0006 others(1): Show |
4 | 230 | 0.0174 | -2666 | c.64- others(15): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
| LYNX1_chr8_142766202_142782202 | 142779109 | TGGGTGAT others(2653): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0068 | 1 | 442 | 0.0023 | -2660 | c.-48 others(11): Show |
LYNX1 | ENSG00000180155.20 | transcript | ENST00000652477.1 | protein_coding | 1908 | chr8 | TogoVar | |||||||
| CNTNAP2_chr7_146111801_148425998 | 146602890 | TGGAGGTC others(2650): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0010a0001c0003t0004others(1): Show | a0001c0001t0002g0006 a0001c0002t0010g0002 a0001c0003t0004g0029 others(1): Show |
4 | 40 | 0.1000 | -2657 | c.98- others(19): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
| HGSNAT_chr8_43135464_43207855 | 43178579 | GATTTCAT others(2650): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0202 | 1 | 232 | 0.0043 | -2657 | c.101 others(17): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| POTEG_chr14_19397486_19439341 | 19408948 | AGTGAATA others(2647): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02027.hp2 HG03017.hp2 others(8): Show |
a0006a0009a0036 | a0006c0007a0006c0011a0009c0008others(1): Show | a0006c0007t0003a0006c0011t0003a0009c0008t0002others(2): Show | a0006c0007t0003g0036 a0006c0007t0003g0037 a0006c0007t0003g0038 others(8): Show |
11 | 110 | 0.1000 | -2654 | c.140 others(19): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
| REEP5_chr5_112871385_112927227 | 112888535 | ACAGCCTC others(2646): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0026 | a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0018 others(31): Show |
43 | 338 | 0.1272 | -2653 | c.352 others(17): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
| SPRY3_chrX_155607586_155787459 | 155689412 | GTTTCAAT others(2645): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0047 others(90): Show |
94 | 229 | 0.4105 | -2652 | c.-28 others(21): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277502 | GGAGGAAA others(2644): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0010 | 1 | 48 | 0.0208 | -2651 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| ENTREP2_chr15_29115252_29575979 | 29460762 | CAATTCTA others(2644): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0004 | a0002c0004t0048 | a0002c0004t0048g0122 | 1 | 124 | 0.0081 | -2651 | c.220 others(19): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
| ERBB4_chr2_211370717_212543802 | 212298623 | GATACTAC others(2643): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | -2650 | c.83- others(19): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
| FARS2_chr6_5256513_5776583 | 5559660 | ATTCTAAA others(2641): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 168 | 0.0060 | -2648 | c.106 others(21): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429597 | CGGTCTGG others(2639): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 358 | 0.0028 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(2639): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 302 | 0.0033 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429718 | TCAGCAGT others(2639): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0098 a0001c0001t0011g0292 |
2 | 350 | 0.0057 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258388 | CCCTGCCA others(2638): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0003a0005c0005t0005 | a0005c0005t0003g0105 a0005c0005t0005g0104 a0005c0005t0005g0106 others(1): Show |
4 | 261 | 0.0153 | -2645 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1307 | chr5 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805431 | CGCAGGCC others(2637): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 231 | 0.0043 | -2644 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3761 | chr2 | TogoVar | |||||||
| HMBOX1_chr8_28885395_29058262 | 28911484 | TAGCTAGG others(2636): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0329 | 1 | 342 | 0.0029 | -2643 | c.-58 others(19): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66600647 | ATTAACAG others(2635): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0018g0076 others(4): Show |
7 | 80 | 0.0875 | -2642 | c.334 others(21): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
| PRR20C_chr13_57149061_57162082 | 57159441 | CCCCCCCC others(2634): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 136 | 0.0074 | -2641 | c.*33 others(11): Show |
PRR20C | ENSG00000229665.8 | transcript | ENST00000544357.2 | protein_coding | 2360 | chr13 | TogoVar | |||||||
| KLRC3_chr12_10407315_10425595 | 10422955 | CCTGATTA others(2633): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 434 | 0.0023 | -2640 | c.-50 others(11): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2361 | chr12 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805209 | TTCCCTCC others(2632): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 94 | 0.0106 | -2639 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 923 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805209 | TTCCCTCC others(2632): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 93 | 0.0108 | -2639 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3983 | chr2 | TogoVar | |||||||
| CNIH3_chr1_224611317_224745554 | 224627968 | GCTGGTCA others(2630): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02523.hp2 HG04184.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0030 | a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0035 others(10): Show |
13 | 356 | 0.0365 | -2637 | c.81+ others(17): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090947 | CGCGCCTA others(2628): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 286 | 0.0035 | -2635 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637215 | ACATGAGG others(2625): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03831.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0004 | a0002c0002t0002g0153 a0004c0004t0004g0147 |
2 | 197 | 0.0102 | -2632 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CD320_chr19_8297127_8313358 | 8310729 | CTGGGTAT others(2622): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 388 | 0.0026 | -2629 | c.-50 others(11): Show |
CD320 | ENSG00000167775.11 | transcript | ENST00000301458.10 | protein_coding | 2372 | chr19 | TogoVar | |||||||
| ZNF106_chr15_42407823_42496141 | 42428817 | GCAGTGGT others(2622): Show |
G | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0133 a0002c0003t0004g0135 |
2 | 262 | 0.0076 | -2629 | c.488 others(18): Show |
ZNF106 | ENSG00000103994.18 | transcript | ENST00000564754.7 | protein_coding | 14/21 | chr15 | TogoVar | |||||||
| CBLIF_chr11_59824273_59850499 | 59847873 | GCAGCCTC others(2619): Show |
G | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0160 | 1 | 340 | 0.0029 | -2626 | c.-50 others(11): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 2375 | chr11 | TogoVar | |||||||
| NPIPB7_chr16_28451329_28477336 | 28470730 | AAGGGGTC others(2616): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01993.hp1 | a0019 | a0019c0023 | a0019c0023t0021 | a0019c0023t0021g0321 | 1 | 380 | 0.0026 | -2623 | c.-29 others(10): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 293 | chr16 | TogoVar | ||||||
| ZAN_chr7_100728595_100802797 | 100740278 | TGATCTGA others(2616): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
a0027a0029a0030others(2): Show | a0027c0084a0029c0042a0030c0083others(2): Show | a0027c0084t0001a0029c0042t0001a0030c0083t0001others(2): Show | a0027c0084t0001g0053 a0029c0042t0001g0307 a0030c0083t0001g0052 others(2): Show |
5 | 306 | 0.0163 | -2623 | c.766 others(17): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| C18orf63_chr18_74310839_74364189 | 74350030 | GTCCATCC others(2614): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0125 | 1 | 370 | 0.0027 | -2621 | c.979 others(16): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTXND2_chr1_150882136_150918292 | 150915671 | TGGTGGCT others(2614): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 370 | 0.0027 | -2621 | c.*31 others(11): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 2380 | chr1 | TogoVar | |||||||
| GABBR2_chr9_98283109_98713935 | 98546761 | ATCTCATT others(2614): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0119 others(54): Show |
57 | 162 | 0.3519 | -2621 | c.460 others(17): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146956976 | ATTCAAAC others(2614): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
a0003a0006a0025others(2): Show | a0003c0004a0003c0021a0003c0022others(9): Show | a0003c0004t0001a0003c0004t0025a0003c0021t0001others(10): Show | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | 120 | 0.2083 | -2621 | c.-18 others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DNM1_chr9_128198379_128260244 | 128198787 | GTGCCACT others(2611): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0022 a0001c0004t0001g0020 |
2 | 348 | 0.0057 | -2618 | c.-46 others(11): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 4591 | chr9 | TogoVar |