| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DHRSX_chrX_2214506_2505976 | 2278993 | AGAGGGAG others(954): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0022 | 1 | 50 | 0.0200 | -961 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2279171 | AGAGGGAG others(954): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0030 | 1 | 50 | 0.0200 | -961 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090854 | AGTACCTA others(954): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 340 | 0.0029 | -961 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(953): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(94): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(77): Show | 97 | 339 | 0.2861 | -960 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166939 | CTTCTTGA others(953): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0040others(1): Show | a0001c0001t0001g0214a0001c0001t0001g0221a0001c0001t0001g0245others(3): Show | 6 | 339 | 0.0177 | -960 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 167131 | GTTCTTGA others(953): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 339 | 0.0030 | -960 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350206 | AGGAGCGA others(953): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03098.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0077a0001c0001t0001g0082a0001c0001t0001g0089others(1): Show | 4 | 344 | 0.0116 | -960 | c.-21 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 789 | chr1 | TogoVar | ||||||
| KCNK13_chr14_90056994_90190853 | 90175885 | GCCTGTCT others(953): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 320 | 0.0031 | -960 | c.335 others(17): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195775620 | TCATACCT others(953): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 |
a0180a0181 | a0180c0033a0181c0036 | a0180c0033t0002a0181c0036t0002 | a0180c0033t0002g0195a0181c0036t0002g0191 | 2 | 249 | 0.0080 | -960 | c.129 others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350206 | AGGAGCGA others(953): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG03098.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0004g0031a0001c0001t0005g0021a0001c0001t0013g0033others(1): Show | 5 | 338 | 0.0148 | -960 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2484 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975849 | GGCCCAGG others(953): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG02109.hp2 HG04228.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0027a0001c0002t0001g0065a0001c0002t0002g0077 | 3 | 150 | 0.0200 | -960 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1627878 | GGGGGTGA others(953): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0196 | 1 | 352 | 0.0028 | -960 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 360056 | CTTTGACT others(953): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0309 | 1 | 370 | 0.0027 | -960 | c.*11 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1690 | chr19 | TogoVar | ||||||
| USP47_chr11_11836972_11966887 | 11854051 | CGTGAACC others(953): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00609.hp2 others(49): Show |
a0001a0006 | a0001c0004a0001c0015a0006c0016 | a0001c0004t0005a0001c0004t0006a0001c0004t0026others(3): Show | a0001c0004t0005g0039a0001c0004t0005g0040a0001c0004t0005g0041others(48): Show | 52 | 386 | 0.1347 | -960 | c.39+ others(17): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| VAV2_chr9_133756894_133997324 | 133827187 | GGGCTGAC others(953): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0098 | 1 | 200 | 0.0050 | -960 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827492 | GGGGCATC others(953): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0198 | 1 | 200 | 0.0050 | -960 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| EPOP_chr17_38666703_38679957 | 38678998 | TAGTAGTC others(952): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 351 | 0.0029 | -959 | c.-54 others(11): Show |
EPOP | ENSG00000273604.2 | transcript | ENST00000621654.2 | protein_coding | 4042 | chr17 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318799 | CGGTGGCG others(952): Show |
C | downstream_gene_variant | MODIFIER | NA19054.hp2 | a0004 | a0004c0003 | a0004c0003t0017 | a0004c0003t0017g0000 | 1 | 406 | 0.0025 | -959 | c.*48 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4042 | chr6 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920887 | GGAACCGA others(952): Show |
G | intron_variant | MODIFIER | NA18955.hp1 NA18957.hp2 NA18983.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016 | a0001c0001t0008g0193a0001c0001t0008g0194a0001c0001t0008g0195others(3): Show | 7 | 352 | 0.0199 | -959 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ZC3H12D_chr6_149441795_149490014 | 149480791 | GGAGGGGC others(952): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02080.hp1 HG02602.hp2 others(8): Show |
a0001a0004 | a0001c0015a0004c0004 | a0001c0015t0036a0004c0004t0021a0004c0004t0022others(3): Show | a0001c0015t0036g0116a0001c0015t0036g0117a0004c0004t0021g0113others(7): Show | 11 | 412 | 0.0267 | -959 | c.-71 others(17): Show |
ZC3H12D | ENSG00000178199.14 | transcript | ENST00000409806.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| IGLL1_chr22_23568125_23585290 | 23581856 | GGCCTCCC others(950): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0181 | 1 | 474 | 0.0021 | -957 | c.-26 others(11): Show |
IGLL1 | ENSG00000128322.7 | transcript | ENST00000330377.3 | protein_coding | 1567 | chr22 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057664 | CGGGGGGC others(950): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01099.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0096a0001c0001t0001g0097others(18): Show | 21 | 314 | 0.0669 | -957 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| BCR_chr22_23175509_23323037 | 23234669 | GGAAGGTG others(949): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(23): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0100a0001c0001t0101a0001c0001t0104others(17): Show | a0001c0001t0100g0188a0001c0001t0101g0189a0001c0001t0104g0184others(22): Show | 26 | 296 | 0.0878 | -956 | c.128 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1397118 | TATTGAGT others(949): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -956 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LMBR1_chr7_156672791_156898183 | 156789852 | AATTAACA others(949): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0059 | a0001c0001t0029g0004a0001c0001t0059g0005 | 2 | 314 | 0.0064 | -956 | c.423 others(17): Show |
LMBR1 | ENSG00000105983.23 | transcript | ENST00000353442.10 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 153988351 | TGGCGCGA others(949): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(2): Show | 5 | 290 | 0.0172 | -956 | c.*35 others(11): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 4338 | chr1 | TogoVar | ||||||
| PFKFB3_chr10_6197932_6240532 | 6209995 | GCCCGCCT others(949): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(118): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0056others(112): Show | 121 | 432 | 0.2801 | -956 | c.77- others(15): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKFB3_chr10_6197932_6240532 | 6210016 | TGCTGGGA others(949): Show |
T | intron_variant | MODIFIER | HG00621.hp1 NA18953.hp2 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0154a0001c0001t0003g0153others(2): Show | 5 | 432 | 0.0116 | -956 | c.77- others(15): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| RAB13_chr1_153976650_153991339 | 153988351 | TGGCGCGA others(949): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0017 | 8 | 408 | 0.0196 | -956 | c.-30 others(11): Show |
RAB13 | ENSG00000143545.10 | transcript | ENST00000368575.5 | protein_coding | 2013 | chr1 | TogoVar | ||||||
| RPS27_chr1_153985762_153997155 | 153988351 | TGGCGCGA others(949): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 7 | 402 | 0.0174 | -956 | c.-24 others(11): Show |
RPS27 | ENSG00000177954.14 | transcript | ENST00000651669.1 | protein_coding | 2410 | chr1 | TogoVar | ||||||
| UCMA_chr10_13216766_13239374 | 13233286 | ACCTGTCT others(949): Show |
A | exon_loss_variant | HIGH | HG02886.hp1 HG03540.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0296a0002c0003t0001g0297 | 2 | 464 | 0.0043 | -956 | c.17_ others(10): Show |
UCMA | ENSG00000165623.10 | transcript | ENST00000378681.8 | protein_coding | 3/5 | chr10 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180617483 | CACCCTCT others(948): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0010others(5): Show | a0001c0009a0001c0023a0002c0002others(11): Show | a0001c0009t0001a0001c0009t0002a0001c0009t0004others(22): Show | a0001c0009t0001g0019a0001c0009t0001g0063a0001c0009t0002g0114others(88): Show | 93 | 388 | 0.2397 | -955 | c.300 others(17): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806452 | CCACCCTC others(948): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 319 | 0.0031 | -955 | c.-28 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2740 | chr2 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919511 | CAGGAACC others(948): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02738.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0236a0001c0001t0006g0242a0001c0001t0006g0254others(1): Show | 4 | 352 | 0.0114 | -955 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393352 | AGGCAGGT others(948): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0032 | a0001c0032t0008 | a0001c0032t0008g0133 | 1 | 346 | 0.0029 | -955 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CCDC7_chr10_32441140_32887864 | 32699474 | TCCAAGTC others(947): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01243.hp1 others(15): Show |
a0005a0012a0019 | a0005c0006a0005c0009a0012c0015others(1): Show | a0005c0006t0001a0005c0009t0001a0005c0009t0003others(3): Show | a0005c0006t0001g0234a0005c0006t0001g0235a0005c0006t0001g0236others(15): Show | 18 | 368 | 0.0489 | -954 | c.245 others(19): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NPEPPS_chr17_47526108_47628276 | 47529663 | AAAGTGCT others(947): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 HG02735.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0023a0002c0005t0001g0008a0002c0005t0001g0020 | 3 | 342 | 0.0088 | -954 | c.-16 others(10): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1444 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80743695 | CCCTGGCT others(947): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0024 | a0001c0024t0037 | a0001c0024t0037g0092 | 1 | 196 | 0.0051 | -954 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80743980 | CTGTCCTG others(947): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0070 | a0001c0070t0020 | a0001c0070t0020g0003 | 1 | 196 | 0.0051 | -954 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | chr17 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919654 | TGGGGAGA others(947): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0197 | 1 | 352 | 0.0028 | -954 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393437 | GGGAAGCC others(947): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0025a0001c0001t0018g0132 | 2 | 346 | 0.0058 | -954 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| LARS2_chr3_45383576_45554407 | 45399787 | CCCTTTCC others(946): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18995.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0135 | 1 | 242 | 0.0041 | -953 | c.235 others(15): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| ROBO2_chr3_77035099_77654964 | 77289745 | ACTGAAGA others(946): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 160 | 0.0063 | -953 | c.389 others(21): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1093913 | TTGCAGGC others(946): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0135 | 1 | 190 | 0.0053 | -953 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392910 | AGGCAGGT others(946): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 346 | 0.0029 | -953 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADD3_chr10_110002984_110140565 | 110030098 | CGGATCAC others(945): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG03239.hp2 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(3): Show | 6 | 288 | 0.0208 | -952 | c.-30 others(19): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FOXQ1_chr6_1307098_1319758 | 1318806 | GCACGCCT others(945): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG03041.hp1 others(5): Show |
a0002a0004 | a0002c0005a0004c0012 | a0002c0005t0001a0002c0005t0007a0004c0012t0001 | a0002c0005t0001g0000a0002c0005t0007g0000a0004c0012t0001g0000 | 8 | 406 | 0.0197 | -952 | c.*48 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4049 | chr6 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346291 | TCTGGGAG others(945): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0227 | 2 | 288 | 0.0069 | -952 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186315 | GACACGGG others(945): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 350 | 0.0029 | -952 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2674 | chr16 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991224 | CGAGCACC others(945): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01123.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0209a0001c0001t0001g0236a0001c0001t0002g0234others(4): Show | 7 | 264 | 0.0265 | -952 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar |